Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.

Scientific reports - 14 Dec 2016

Bruque Carlos D, Delea Marisol, Fernández Cecilia S, Orza Juan V, Taboas Melisa, Buzzalino Noemí, Espeche Lucía D, Solari Andrea, Luccerini Verónica, Alba Liliana, Nadra Alejandro D, Dain Liliana

Abstract excerpt

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90-95% of CAH cases. In this work we performed an extensive survey of mutations and SNPs modifying the coding sequence of the CYP21A2 gene. Using bioinformatic tools and two plausible CYP21A2 structures as templates, we initially classified all known mutants (n = 343) according to their putative functional impacts, which were either...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Hyperplasia, Congenital
Share to Computer Simulation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Models, Molecular

Share to Protein Conformation

Share to Protein Stability

Share to Steroid 21-Hydroxylase

Share to Structure-Activity Relationship

Source

Open in PubMed Open full text

Identifiers

PMID: 27966633
DOI: 10.1038/srep39082
PMCID: PMC5155424

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.PMID 27966633Read ↗

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.Semantic proximity Read ↗

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese PopulationsSemantic proximity Read ↗

Comprehensive genetic analysis and structural characterization of CYP21A2 mutations in CAH patients.Semantic proximity Read ↗

Characterization of mutations causing steroid 21-hydroxylase deficiency in Brazilian and Portuguese populationsSemantic proximity Read ↗

Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.Semantic proximity Read ↗

In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant.Semantic proximity Read ↗

Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.Semantic proximity Read ↗

Functional and structural analysis of four novel mutations of CYP21A2 gene in Italian patients with 21-hydroxylase deficiency.Semantic proximity Read ↗

Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.Semantic proximity Read ↗

Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.Semantic proximity Read ↗

Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.Semantic proximity Read ↗

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.